Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation

葡萄牙 BRCA2 创始突变杂合诱导性多能干细胞的生成和表征

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作者:Teresa P Silva, Carolina A Pereira, Ana Cláudia Raposo, Ana Rita Oliveira, Maria Arez, Joaquim M S Cabral, Inês Milagre, Maria Carmo-Fonseca, Simão Teixeira da Rocha

Abstract

Women who inherit heterozygous mutations in the BRCA2 gene have an increased risk of developing cancer, mainly breast and ovarian tumors. A particular BRCA2 mutation (c.156_157insAlu) is exclusively found in families of Portuguese ancestry and is present in approximately 30% of all Portuguese families with hereditary breast and ovarian cancers. We report the generation and characterization of the first iPSC line from a female donor harboring the Portuguese BRCA2 founder mutation. Skin fibroblasts were reprogrammed using a non-integrative Sendai virus. These iPSCs are a valuable tool to study the origin of BRCA2-associated cancer in its earliest phases.

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